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254214009: Inherited disorder of keratinization (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
378439010 Inherited disorder of keratinization en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
378440012 Inherited disorder of keratinisation en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
645074016 Inherited disorder of keratinization (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5082801000241113 affection héréditaire de la kératinisation fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

110 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Inherited disorder of keratinization Is a Genodermatosis false Inferred relationship Some
Inherited disorder of keratinization Occurrence Congenital false Inferred relationship Some
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Some 1
Inherited disorder of keratinization Is a Disorder of keratinisation true Inferred relationship Some
Inherited disorder of keratinization Has definitional manifestation Abnormal keratinization false Inferred relationship Some
Inherited disorder of keratinization Associated morphology anomalie congénitale false Inferred relationship Some 1
Inherited disorder of keratinization Associated morphology anomalie congénitale false Inferred relationship Some 1
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Some 1
Inherited disorder of keratinization Occurrence Congenital false Inferred relationship Some 2
Inherited disorder of keratinization Associated morphology anomalie du développement false Inferred relationship Some 2
Inherited disorder of keratinization Finding site Skin structure false Inferred relationship Some 2
Inherited disorder of keratinization Finding site Structure of integumentary system (body structure) false Inferred relationship Some
Inherited disorder of keratinization Has interpretation Abnormal true Inferred relationship Some 1
Inherited disorder of keratinization Interprets Keratinization true Inferred relationship Some 1
Inherited disorder of keratinization Finding site Structure of integumentary system (body structure) true Inferred relationship Some 2
Inherited disorder of keratinization Is a Hereditary disorder of the integument true Inferred relationship Some
Inherited disorder of keratinization Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Keratosis pilaris with ichthyosis and deafness Is a False Inherited disorder of keratinization Inferred relationship Some
Hereditary palmoplantar keratoderma Is a False Inherited disorder of keratinization Inferred relationship Some
Erythrokeratoderma Is a True Inherited disorder of keratinization Inferred relationship Some
Hereditary erythrokeratolysis Is a True Inherited disorder of keratinization Inferred relationship Some
Hereditary follicular keratoses Is a True Inherited disorder of keratinization Inferred relationship Some
Knuckle pads, leukonychia, sensorineural deafness, palmoplantar hyperkeratosis syndrome (disorder) Is a True Inherited disorder of keratinization Inferred relationship Some
Pachyonychia congenita syndrome Is a False Inherited disorder of keratinization Inferred relationship Some
Familial benign pemphigus Is a True Inherited disorder of keratinization Inferred relationship Some
Hereditary acantholytic dermatosis Is a True Inherited disorder of keratinization Inferred relationship Some
Primary seborrhea Is a False Inherited disorder of keratinization Inferred relationship Some
Acrokeratosis verruciformis of Hopf (disorder) Is a True Inherited disorder of keratinization Inferred relationship Some
Acral peeling skin syndrome Is a False Inherited disorder of keratinization Inferred relationship Some
A group of rare autosomal recessive forms of ichthyosis clinically characterized by superficial, asymptomatic, spontaneous peeling of the skin and histologically by a shedding of the outer layers of the epidermis. PSS presents with either an acral (acral PSS) or a generalized distribution for generalized PSS type A (noninflammatory) or B (inflammatory). Is a False Inherited disorder of keratinization Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by intellectual deficit, choroideremia, horizontal nystagmus, severe myopia, acrokeratosis verruciformis-like skin abnormality, anhidrosis, and scapular winging. There have been no further descriptions in the literature since 1959. Is a False Inherited disorder of keratinization Inferred relationship Some
Trichodysplasia-xeroderma syndrome is an extremely rare, syndromic hair shaft anomaly characterized by sparse, coarse, brittle, excessively dry and slow-growing scalp hair, sparse axillary and pubic hair, sparse or absent eyelashes and eyebrows and dry skin. Hair shaft analysis shows pili torti, longitudinal splitting, grooves, peeling and scaling. There have been no further descriptions in the literature since 1987. Is a False Inherited disorder of keratinization Inferred relationship Some
A form of peeling skin syndrome characterized by a generalized distribution. It comprises two sub-types: the non-inflammatory (PSS type A) and the inflammatory (PSS type B) form. PSS type A is characterized by generalized white scaling with superficial non-inflammatory peeling of the skin, while PSS type B is characterized by superficial patchy peeling of the entire skin with underlying erythroderma, pruritus, and atopy. Is a False Inherited disorder of keratinization Inferred relationship Some
Atrophoderma vermiculatum (disorder) Is a True Inherited disorder of keratinization Inferred relationship Some
Congenital ichthyosis of skin Is a True Inherited disorder of keratinization Inferred relationship Some
Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. Is a True Inherited disorder of keratinization Inferred relationship Some
Xeroderma pigmentosum Is a False Inherited disorder of keratinization Inferred relationship Some
A rare dysostosis with predominant vertebral involvement characterized by paraspinal ligament ossification (most pronounced in the lower thoracic region), osteophytosis, marginal sacroiliac joint sclerosis, and punctate hyperkeratosis on the soles and palms. Patients may be asymptomatic or present mild to moderate back pain. There have been no further descriptions in the literature since 1969. Is a False Inherited disorder of keratinization Inferred relationship Some
Disseminated superficial porokeratosis Is a True Inherited disorder of keratinization Inferred relationship Some
A rare genetic disease which is a rare form of porokeratosis occurring mainly in adolescence and characterized by small pruritic or painful keratotic papules that first appear on the palms and soles, and may gradually spread to other body zones. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, wooly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare, genetic, isolated palmoplantar keratoderma characterized by focal hyperkeratotic lesions affecting the pressure- and mechanical trauma-bearing areas of the palms and soles, as well as hyperkeratotic plaques involving joints, including knees, elbows, ankles and dorsa of interphalangeal joints. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare, genetic, isolated palmoplantar keratoderma characterized by non-epidermolytic, diffuse hyperkeratotic lesions affecting both the palms and the soles, associated with a tendency of painful fissuring. Contrary to the clinical findings, histologic examination reveals findings suggestive of keratosis palmoplantaris striata, with orthohyperkeratosis featuring widening of the intercellular spaces and disadhesion of keratocytes in the upper epidermal layers. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare, genetic, isolated, focal palmoplantar keratoderma disease characterized by focal thickening of the skin of the soles, and often of the palms, associated with minimal or no nail involvement. Patients frequently present non-epidermolytic painful plantar blistering and, occasionally, subtle oral leukokeratosis or plantar hyperhidrosis. Is a True Inherited disorder of keratinization Inferred relationship Some
Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration. Is a True Inherited disorder of keratinization Inferred relationship Some
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome is a rare, genetic, syndromic intellectual disability disorder characterised by severe intellectual disability with significant speech and language impairment, hypohidrosis (often resulting in hyperthermia) with normal sweat gland appearance, tooth enamel hypoplasia, palmoplantar hyperkeratosis and a high frequency of acquired microcephaly. Mild facial dysmorphism, including lateral flaring of the eyebrows, broad nasal tip, and thick vermilion border, may also be observed. Is a False Inherited disorder of keratinization Inferred relationship Some
A rare ophthalmic disorder characterized by corneal opacification and dyskeratosis (which may cause visual impairment), associated with systemic features including palmoplantar hyperkeratosis, laryngeal dyskeratosis, pruritic hyperkeratotic scars, chronic rhinitis, dyshidrosis and/or nail thickening. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare, genetic punctate palmoplantar keratoderma disease characterized by discrete, focal, punctate keratoderma on the palms and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. Lesional histology reveals pronounced orthokeratosis, acanthosis, papillomatosis, and regular undulation to the surface keratin. There have been no further descriptions in the literature since 1983. Is a True Inherited disorder of keratinization Inferred relationship Some
Cutis gyrata syndrome of Beare and Stevenson Is a True Inherited disorder of keratinization Inferred relationship Some
A rare X-linked syndromic intellectual disability characterized by intellectual impairment of variable severity, progressive lower limb spasticity, and diffuse palmoplantar hyperkeratosis. Additional manifestations include pes cavus, extensor plantar responses, hand tremor, and mild dysmorphic facial features. Is a True Inherited disorder of keratinization Inferred relationship Some
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis. Is a True Inherited disorder of keratinization Inferred relationship Some

This concept is not in any reference sets

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